A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5498991



Internal ID275972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:86508128..86520700hg38UCSC Ensembl
chr12:86901905..86914477hg19UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg3812573
hg1912573
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17689812
Samples
Known GenesMGAT4C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5498991
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer